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About 318 results

ALLMedicine™ Alkaptonuria Center

Research & Reviews  121 results

Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation.
https://doi.org/10.1111/ced.15056
Clinical and Experimental Dermatology; Altemir A, Bara J et. al.

Jan 6th, 2022 - Alkaptonuria is a rare autosomal recessive metabolic disorder with wide systemic involvement including pigment deposition. We present an unusual case diagnosed by an image obtained via telemedicine showing pigment deposition in the earlobe. We hig...

Musculoskeletal manifestations in Alkaptonuria: A cross-sectional study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702201
Medicine Khan AH, Afroze B et. al.

Dec 24th, 2021 - This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria cases reported by the Biochemical Genetics Lab.An observational study was conducted at the Biochemical Genetics Lab. Alkaptonuria patients were dia...

Study of Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00005909

Dec 16th, 2021 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare di...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655580
BMJ Case Reports; Roopnarinesingh RC, Donlon NE et. al.

Dec 9th, 2021 - Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation...

Identifying joint-specific gait mechanisms causing impaired gait in alkaptonuria patients.
https://doi.org/10.1016/j.gaitpost.2021.10.034
Gait & Posture; Shepherd HR, Robinson MA et. al.

Nov 21st, 2021 - Alkaptonuria is a rare genetic disease that leads to structural joint damage and impaired movement function. Previous research indicates that alkaptonuria affects gait, however the detailed mechanisms are unknown. What are the joint-specific gait ...

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Clinicaltrials.gov  3 results

Study of Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00005909

Dec 16th, 2021 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT01390077

Apr 22nd, 2021 - Study procedures are designed to: Develop a method for nitisinone measurement via tandem mass spectrometry (MS/MS). Determine whether differences between adult and children could be erased by employing a dosage regimen based on m2 of body surface ...

Individualised Gait Modification Strategies in Alkaptonuria Patients
https://clinicaltrials.gov/ct2/show/NCT04142671

Feb 26th, 2021 - Alkaptonuria (AKU) is a degenerative disease affecting the cartilage of the joints. The disease affects movement function, particularly walking/gait which is an important activity of daily living. It is believed that increased joint loading measur...

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News  3 results

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
https://www.mdedge.com/fedprac/article/215093/pain/incidentally-discovered-ochronosis-explaining-decades-chronic-pain/page/0/2?channel=285

Jan 7th, 2020 - Manipulating the metabolic pathway of phenylalanine with medication is a second option. An example of this is nitisinone, a US Food and Drug Administration-approved medication for treatment of tyrosinemia.

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
https://www.mdedge.com/fedprac/article/215093/pain/incidentally-discovered-ochronosis-explaining-decades-chronic-pain
Aaron Reyes, MD, Leila Hashemi, MD

Jan 7th, 2020 - Alkaptonuria is a rare autosomal recessive disorder uniquely known for causing black, or darkened, urine when left standing due to the renal excretion of excess homogentisic acid (HGA). When this disorder goes undiagnosed, as demonstrated in this.

On the Ocular Findings in Ochronosis
https://www.medscape.com/viewarticle/820497

Abstract Background Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autoso...

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